ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.367-?_1386+?del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076584 SCV000107610 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research In-frame large deletion leading to protein conformational change and inactive protein
Invitae RCV000076584 SCV000253807 pathogenic Lynch syndrome 2015-06-04 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 3-8 of the MSH2 gene. This deletion extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. However, it results in the deletion of 340 amino acid residues of the MSH2 protein. Gross deletions in MSH2 are known to be pathogenic. Several deletions encompassing exons 3-8 have been reported in the literature in patients affected with colon cancer and Lynch syndrome (PMID: 16143124, 15942939, 12658575). Experimental studies have shown that a colon cancer cell line that carries this deletion is mismatch repair deficient (PMID: 8521394, 17101317). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000076584 SCV000590990 pathogenic Lynch syndrome 2013-07-25 criteria provided, single submitter clinical testing

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